Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation

PURPOSE: Variants in MYBPC3 causing loss of function are the most common cause of hypertrophic cardiomyopathy (HCM). However, a substantial number of patients carry missense variants of uncertain significance (VUS) in MYBPC3. We hypothesize that a structural-based algorithm, STRUM, which estimates t...

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Publicado no:Genet Med
Main Authors: Thompson, Andrea D., Helms, Adam S., Kannan, Anamika, Yob, Jaime, Lakdawala, Neal K., Wittekind, Samuel G., Pereira, Alexandre C., Jacoby, Daniel L., Colan, Steven D., Ashley, Euan A., Saberi, Sara, Ware, James S., Ingles, Jodie, Semsarian, Christopher, Michels, Michelle, Mazzarotto, Francesco, Olivotto, Iacopo, Ho, Carolyn Y., Day, Sharlene M.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8257482/
https://ncbi.nlm.nih.gov/pubmed/33782553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-021-01134-9
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